The Brain and Spine Institute is made up of experts in the field of neuroscience in order to bring patients the best healthcare in East Tennessee for a full range of neurological diseases and disorders.
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We provide a comprehensive continuum of cancer services, including prevention, outreach, diagnostic, treatment and support services delivered by our highly skilled staff with compassion and care.
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The Center for Women & Children's Health is a hub for supporting women's and children's individual healthcare needs. The center provides support, research and unmatched patient-centered care.
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Emergency and Trauma Services is the only Level I Trauma Center in the area and serves as the tertiary referral center for medical care in East Tennessee, serving Knox County and 21 surrounding counties.
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The Heart Lung Vascular Institute brings together expertise in clinical care, teaching and research. Patients receive exceptional healthcare combined with patient-centered care.
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Achondrogenesis
Definition
Achondrogenesis is a rare type of growth hormone deficiency in which there is a defect in the development of bone and cartilage.
Causes, incidence, and risk factors
Achondrogenesis is inherited, which means it is passed down through families.
Some types are known to be recessive, meaning both parents carry the defective gene and the chance for a subsequent child to be affected is about 25%.
Symptoms
- Very short trunk, arms, legs and neck
- Head appears large in relation to the trunk
- Small lower jaw
- Narrow chest
Signs and tests
X-rays show bone problems associated with the condition.
Treatment
There is no current therapy. Talk to your doctor about care decisions.
Genetic counseling may be appropriate.
Support Groups
Expectations (prognosis)
The outcome is generally very poor. Many infants with achondrogenesis are stillborn or die shortly after birth because of breathing problems related to the abnormally small chest.
Complications
This condition is often fatal early in life.
Calling your health care provider
This condition is often diagnosed on the first examination of an infant.
Prevention
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